Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31533703G>ACA425568397SRD5A2c.345C>T (p.Gly115=)
c.123C>T (p.Gly41=)
c.90C>T (p.Gly30=)
2g.31533703G>CCA425568400SRD5A2c.345C>G (p.Gly115=)
c.123C>G (p.Gly41=)
c.90C>G (p.Gly30=)
2g.31533703G>TCA425568399SRD5A2c.345C>A (p.Gly115=)
c.123C>A (p.Gly41=)
c.90C>A (p.Gly30=)
gnomAD v4
2g.31533704C>ACA346598615SRD5A2c.344G>T (p.Gly115Val)
c.122G>T (p.Gly41Val)
c.89G>T (p.Gly30Val)
2g.31533704C=CA1242199347SRD5A2c.344G= (p.Gly115=)
c.122G= (p.Gly41=)
c.89G= (p.Gly30=)
2g.31533704C>GCA346598616SRD5A2c.344G>C (p.Gly115Ala)
c.122G>C (p.Gly41Ala)
c.89G>C (p.Gly30Ala)
2g.31533704C>TCA340070SRD5A2c.344G>A (p.Gly115Asp)
c.122G>A (p.Gly41Asp)
c.89G>A (p.Gly30Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533705C>ACA346598617SRD5A2c.343G>T (p.Gly115Cys)
c.121G>T (p.Gly41Cys)
c.88G>T (p.Gly30Cys)
gnomAD v4
2g.31533705C>GCA346598618SRD5A2c.343G>C (p.Gly115Arg)
c.121G>C (p.Gly41Arg)
c.88G>C (p.Gly30Arg)
2g.31533705C>TCA346598619SRD5A2c.343G>A (p.Gly115Ser)
c.121G>A (p.Gly41Ser)
c.88G>A (p.Gly30Ser)
gnomAD v4
2g.31533706T>ACA346598621SRD5A2c.342A>T (p.Arg114Ser)
c.120A>T (p.Arg40Ser)
c.87A>T (p.Arg29Ser)
gnomAD v4 COSMIC
2g.31533706T>CCA425568406SRD5A2c.342A>G (p.Arg114=)
c.120A>G (p.Arg40=)
c.87A>G (p.Arg29=)
gnomAD v4
2g.31533706T>GCA346598620SRD5A2c.342A>C (p.Arg114Ser)
c.120A>C (p.Arg40Ser)
c.87A>C (p.Arg29Ser)
2g.31533707C>ACA346598622SRD5A2c.341G>T (p.Arg114Ile)
c.119G>T (p.Arg40Ile)
c.86G>T (p.Arg29Ile)
2g.31533707C>GCA346598623SRD5A2c.341G>C (p.Arg114Thr)
c.119G>C (p.Arg40Thr)
c.86G>C (p.Arg29Thr)
2g.31533707C>TCA346598624SRD5A2c.341G>A (p.Arg114Lys)
c.119G>A (p.Arg40Lys)
c.86G>A (p.Arg29Lys)
gnomAD v4
2g.31533708T>ACA346598625SRD5A2c.340A>T (p.Arg114Ter)
c.118A>T (p.Arg40Ter)
c.85A>T (p.Arg29Ter)
2g.31533708T>CCA346598626SRD5A2c.340A>G (p.Arg114Gly)
c.118A>G (p.Arg40Gly)
c.85A>G (p.Arg29Gly)
gnomAD v4
2g.31533708T>GCA425568410SRD5A2c.340A>C (p.Arg114=)
c.118A>C (p.Arg40=)
c.85A>C (p.Arg29=)
2g.31533709G>ACA1599958SRD5A2c.339C>T (p.Leu113=)
c.117C>T (p.Leu39=)
c.84C>T (p.Leu28=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533709G>CCA425568413SRD5A2c.339C>G (p.Leu113=)
c.117C>G (p.Leu39=)
c.84C>G (p.Leu28=)
2g.31533709G=CA1242199348SRD5A2c.339C= (p.Leu113=)
c.117C= (p.Leu39=)
c.84C= (p.Leu28=)
2g.31533709G>TCA425568415SRD5A2c.339C>A (p.Leu113=)
c.117C>A (p.Leu39=)
c.84C>A (p.Leu28=)
gnomAD v4
2g.31533710A=CA1242199349SRD5A2c.338T= (p.Leu113=)
c.116T= (p.Leu39=)
c.83T= (p.Leu28=)
2g.31533710A>CCA346598627SRD5A2c.338T>G (p.Leu113Arg)
c.116T>G (p.Leu39Arg)
c.83T>G (p.Leu28Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533710A>GCA346598629SRD5A2c.338T>C (p.Leu113Pro)
c.116T>C (p.Leu39Pro)
c.83T>C (p.Leu28Pro)
2g.31533710A>TCA346598628SRD5A2c.338T>A (p.Leu113His)
c.116T>A (p.Leu39His)
c.83T>A (p.Leu28His)
2g.31533711G>ACA346598630SRD5A2c.337C>T (p.Leu113Phe)
c.115C>T (p.Leu39Phe)
c.82C>T (p.Leu28Phe)
2g.31533711G>CCA1599959SRD5A2c.337C>G (p.Leu113Val)
c.115C>G (p.Leu39Val)
c.82C>G (p.Leu28Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533711G=CA1242199350SRD5A2c.337C= (p.Leu113=)
c.115C= (p.Leu39=)
c.82C= (p.Leu28=)
2g.31533711G>TCA346598631SRD5A2c.337C>A (p.Leu113Ile)
c.115C>A (p.Leu39Ile)
c.82C>A (p.Leu28Ile)
gnomAD v4 COSMIC
2g.31533712A>CCA346598632SRD5A2c.336T>G (p.Ile112Met)
c.114T>G (p.Ile38Met)
c.81T>G (p.Ile27Met)
2g.31533712A>GCA425568421SRD5A2c.336T>C (p.Ile112=)
c.114T>C (p.Ile38=)
c.81T>C (p.Ile27=)
gnomAD v4
2g.31533712A>TCA425568422SRD5A2c.336T>A (p.Ile112=)
c.114T>A (p.Ile38=)
c.81T>A (p.Ile27=)
2g.31533713A=CA1242199351SRD5A2c.335T= (p.Ile112=)
c.113T= (p.Ile38=)
c.80T= (p.Ile27=)
2g.31533713A>CCA346598633SRD5A2c.335T>G (p.Ile112Ser)
c.113T>G (p.Ile38Ser)
c.80T>G (p.Ile27Ser)
2g.31533713A>GCA346598634SRD5A2c.335T>C (p.Ile112Thr)
c.113T>C (p.Ile38Thr)
c.80T>C (p.Ile27Thr)
dbSNP gnomAD v2 gnomAD v4
2g.31533713A>TCA1599960SRD5A2c.335T>A (p.Ile112Asn)
c.113T>A (p.Ile38Asn)
c.80T>A (p.Ile27Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533714T>ACA346598635SRD5A2c.334A>T (p.Ile112Phe)
c.112A>T (p.Ile38Phe)
c.79A>T (p.Ile27Phe)
2g.31533714T>CCA346598636SRD5A2c.334A>G (p.Ile112Val)
c.112A>G (p.Ile38Val)
c.79A>G (p.Ile27Val)
2g.31533714T>GCA346598637SRD5A2c.334A>C (p.Ile112Leu)
c.112A>C (p.Ile38Leu)
c.79A>C (p.Ile27Leu)
gnomAD v4
2g.31533714_31533716delinsTGACA1242199352SRD5A2c.332_334delinsTCA (p.Leu111=)
c.110_112delinsTCA (p.Leu37=)
c.77_79delinsTCA (p.Leu26=)
2g.31533715G>ACA45136782SRD5A2c.333C>T (p.Leu111=)
c.111C>T (p.Leu37=)
c.78C>T (p.Leu26=)
ClinVar dbSNP gnomAD v4
2g.31533715G>CCA425568428SRD5A2c.333C>G (p.Leu111=)
c.111C>G (p.Leu37=)
c.78C>G (p.Leu26=)
2g.31533715G=CA1242199353SRD5A2c.333C= (p.Leu111=)
c.111C= (p.Leu37=)
c.78C= (p.Leu26=)
2g.31533715G>TCA425568430SRD5A2c.333C>A (p.Leu111=)
c.111C>A (p.Leu37=)
c.78C>A (p.Leu26=)
gnomAD v4
2g.31533716_31533717delCA767761813SRD5A2c.332_333del (p.Leu111HisfsTer24)
c.110_111del (p.Leu37HisfsTer24)
c.77_78del (p.Leu26HisfsTer24)
dbSNP gnomAD v3 gnomAD v4
2g.31533716A>CCA346598640SRD5A2c.332T>G (p.Leu111Arg)
c.110T>G (p.Leu37Arg)
c.77T>G (p.Leu26Arg)
2g.31533716A>GCA346598639SRD5A2c.332T>C (p.Leu111Pro)
c.110T>C (p.Leu37Pro)
c.77T>C (p.Leu26Pro)
2g.31533716A>TCA346598638SRD5A2c.332T>A (p.Leu111His)
c.110T>A (p.Leu37His)
c.77T>A (p.Leu26His)
2g.31533717G>ACA346598641SRD5A2c.331C>T (p.Leu111Phe)
c.109C>T (p.Leu37Phe)
c.76C>T (p.Leu26Phe)
2g.31533717G>CCA346598642SRD5A2c.331C>G (p.Leu111Val)
c.109C>G (p.Leu37Val)
c.76C>G (p.Leu26Val)
dbSNP gnomAD v2 gnomAD v4
2g.31533717G=CA1242199354SRD5A2c.331C= (p.Leu111=)
c.109C= (p.Leu37=)
c.76C= (p.Leu26=)
2g.31533717G>TCA1599961SRD5A2c.331C>A (p.Leu111Ile)
c.109C>A (p.Leu37Ile)
c.76C>A (p.Leu26Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533718T>ACA425568434SRD5A2c.330A>T (p.Ile110=)
c.108A>T (p.Ile36=)
c.75A>T (p.Ile25=)
2g.31533718T>CCA346598643SRD5A2c.330A>G (p.Ile110Met)
c.108A>G (p.Ile36Met)
c.75A>G (p.Ile25Met)
gnomAD v4
2g.31533718T>GCA425568436SRD5A2c.330A>C (p.Ile110=)
c.108A>C (p.Ile36=)
c.75A>C (p.Ile25=)
2g.31533719A>CCA346598645SRD5A2c.329T>G (p.Ile110Arg)
c.107T>G (p.Ile36Arg)
c.74T>G (p.Ile25Arg)
2g.31533719A>GCA346598644SRD5A2c.329T>C (p.Ile110Thr)
c.107T>C (p.Ile36Thr)
c.74T>C (p.Ile25Thr)
gnomAD v4
2g.31533719A>TCA346598646SRD5A2c.329T>A (p.Ile110Lys)
c.107T>A (p.Ile36Lys)
c.74T>A (p.Ile25Lys)
2g.31533720T>ACA346598647SRD5A2c.328A>T (p.Ile110Leu)
c.106A>T (p.Ile36Leu)
c.73A>T (p.Ile25Leu)
2g.31533720T>CCA1599962SRD5A2c.328A>G (p.Ile110Val)
c.106A>G (p.Ile36Val)
c.73A>G (p.Ile25Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533720T>GCA346598648SRD5A2c.328A>C (p.Ile110Leu)
c.106A>C (p.Ile36Leu)
c.73A>C (p.Ile25Leu)
gnomAD v4
2g.31533720T=CA1242199355SRD5A2c.328A= (p.Ile110=)
c.106A= (p.Ile36=)
c.73A= (p.Ile25=)
2g.31533721A>CCA425568441SRD5A2c.327T>G (p.Ala109=)
c.105T>G (p.Ala35=)
c.72T>G (p.Ala24=)
2g.31533721A>GCA425568443SRD5A2c.327T>C (p.Ala109=)
c.105T>C (p.Ala35=)
c.72T>C (p.Ala24=)
gnomAD v4
2g.31533721A>TCA425568444SRD5A2c.327T>A (p.Ala109=)
c.105T>A (p.Ala35=)
c.72T>A (p.Ala24=)
COSMIC
2g.31533722G>ACA346598649SRD5A2c.326C>T (p.Ala109Val)
c.104C>T (p.Ala35Val)
c.71C>T (p.Ala24Val)
dbSNP gnomAD v3 gnomAD v4
2g.31533722G>CCA346598650SRD5A2c.326C>G (p.Ala109Gly)
c.104C>G (p.Ala35Gly)
c.71C>G (p.Ala24Gly)
2g.31533722G=CA1242199356SRD5A2c.326C= (p.Ala109=)
c.104C= (p.Ala35=)
c.71C= (p.Ala24=)
2g.31533722G>TCA346598651SRD5A2c.326C>A (p.Ala109Asp)
c.104C>A (p.Ala35Asp)
c.71C>A (p.Ala24Asp)
gnomAD v4
2g.31533723C>ACA346598652SRD5A2c.325G>T (p.Ala109Ser)
c.103G>T (p.Ala35Ser)
c.70G>T (p.Ala24Ser)
dbSNP gnomAD v3 gnomAD v4
2g.31533723C=CA1242199357SRD5A2c.325G= (p.Ala109=)
c.103G= (p.Ala35=)
c.70G= (p.Ala24=)
2g.31533723C>GCA346598653SRD5A2c.325G>C (p.Ala109Pro)
c.103G>C (p.Ala35Pro)
c.70G>C (p.Ala24Pro)
gnomAD v4
2g.31533723C>TCA346598654SRD5A2c.325G>A (p.Ala109Thr)
c.103G>A (p.Ala35Thr)
c.70G>A (p.Ala24Thr)
dbSNP gnomAD v4
2g.31533724T>ACA425568449SRD5A2c.324A>T (p.Pro108=)
c.102A>T (p.Pro34=)
c.69A>T (p.Pro23=)
gnomAD v4
2g.31533724T>CCA425568452SRD5A2c.324A>G (p.Pro108=)
c.102A>G (p.Pro34=)
c.69A>G (p.Pro23=)
dbSNP gnomAD v4
2g.31533724T>GCA425568451SRD5A2c.324A>C (p.Pro108=)
c.102A>C (p.Pro34=)
c.69A>C (p.Pro23=)
2g.31533724T=CA1242199358SRD5A2c.324A= (p.Pro108=)
c.102A= (p.Pro34=)
c.69A= (p.Pro23=)
2g.31533725G>ACA346598655SRD5A2c.323C>T (p.Pro108Leu)
c.101C>T (p.Pro34Leu)
c.68C>T (p.Pro23Leu)
2g.31533725G>CCA346598656SRD5A2c.323C>G (p.Pro108Arg)
c.101C>G (p.Pro34Arg)
c.68C>G (p.Pro23Arg)
2g.31533725G>TCA346598657SRD5A2c.323C>A (p.Pro108Gln)
c.101C>A (p.Pro34Gln)
c.68C>A (p.Pro23Gln)
gnomAD v4
2g.31533726G>ACA346598658SRD5A2c.322C>T (p.Pro108Ser)
c.100C>T (p.Pro34Ser)
c.67C>T (p.Pro23Ser)
2g.31533726G>CCA346598660SRD5A2c.322C>G (p.Pro108Ala)
c.100C>G (p.Pro34Ala)
c.67C>G (p.Pro23Ala)
COSMIC
2g.31533726G>TCA346598659SRD5A2c.322C>A (p.Pro108Thr)
c.100C>A (p.Pro34Thr)
c.67C>A (p.Pro23Thr)
gnomAD v4
2g.31533727A=CA1242199359SRD5A2c.321T= (p.Tyr107=)
c.99T= (p.Tyr33=)
c.66T= (p.Tyr22=)
2g.31533727A>CCA346598661SRD5A2c.321T>G (p.Tyr107Ter)
c.99T>G (p.Tyr33Ter)
c.66T>G (p.Tyr22Ter)
2g.31533727A>GCA1599963SRD5A2c.321T>C (p.Tyr107=)
c.99T>C (p.Tyr33=)
c.66T>C (p.Tyr22=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533727A>TCA346598662SRD5A2c.321T>A (p.Tyr107Ter)
c.99T>A (p.Tyr33Ter)
c.66T>A (p.Tyr22Ter)
ClinVar dbSNP gnomAD v4
2g.31533728T>ACA346598663SRD5A2c.320A>T (p.Tyr107Phe)
c.98A>T (p.Tyr33Phe)
c.65A>T (p.Tyr22Phe)
2g.31533728T>CCA346598664SRD5A2c.320A>G (p.Tyr107Cys)
c.98A>G (p.Tyr33Cys)
c.65A>G (p.Tyr22Cys)
dbSNP
2g.31533728T>GCA346598665SRD5A2c.320A>C (p.Tyr107Ser)
c.98A>C (p.Tyr33Ser)
c.65A>C (p.Tyr22Ser)
2g.31533728T=CA1242199360SRD5A2c.320A= (p.Tyr107=)
c.98A= (p.Tyr33=)
c.65A= (p.Tyr22=)
2g.31533729A>CCA346598666SRD5A2c.319T>G (p.Tyr107Asp)
c.97T>G (p.Tyr33Asp)
c.64T>G (p.Tyr22Asp)
2g.31533729A>GCA346598667SRD5A2c.319T>C (p.Tyr107His)
c.97T>C (p.Tyr33His)
c.64T>C (p.Tyr22His)
gnomAD v4
2g.31533729A>TCA346598668SRD5A2c.319T>A (p.Tyr107Asn)
c.97T>A (p.Tyr33Asn)
c.64T>A (p.Tyr22Asn)
2g.31533730A>CCA425568464SRD5A2c.318T>G (p.Pro106=)
c.96T>G (p.Pro32=)
c.63T>G (p.Pro21=)
gnomAD v4
2g.31533730A>GCA425568465SRD5A2c.318T>C (p.Pro106=)
c.96T>C (p.Pro32=)
c.63T>C (p.Pro21=)
ClinVar gnomAD v2 gnomAD v4
2g.31533730A>TCA425568466SRD5A2c.318T>A (p.Pro106=)
c.96T>A (p.Pro32=)
c.63T>A (p.Pro21=)
gnomAD v4
2g.31533730_31533731delinsAGCA1242199361SRD5A2c.317_318delinsCT (p.Pro106=)
c.95_96delinsCT (p.Pro32=)
c.62_63delinsCT (p.Pro21=)
2g.31533731G>ACA1599964SRD5A2c.317C>T (p.Pro106Leu)
c.95C>T (p.Pro32Leu)
c.62C>T (p.Pro21Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533731G>CCA346598670SRD5A2c.317C>G (p.Pro106Arg)
c.95C>G (p.Pro32Arg)
c.62C>G (p.Pro21Arg)
2g.31533731G=CA1242199362SRD5A2c.317C= (p.Pro106=)
c.95C= (p.Pro32=)
c.62C= (p.Pro21=)
2g.31533731G>TCA346598669SRD5A2c.317C>A (p.Pro106His)
c.95C>A (p.Pro32His)
c.62C>A (p.Pro21His)
2g.31533732delCA45136783SRD5A2c.317del (p.Pro106LeufsTer25)
c.95del (p.Pro32LeufsTer25)
c.62del (p.Pro21LeufsTer25)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533732G>ACA45136784SRD5A2c.316C>T (p.Pro106Ser)
c.94C>T (p.Pro32Ser)
c.61C>T (p.Pro21Ser)
dbSNP gnomAD v2 gnomAD v4
2g.31533732G>CCA1599965SRD5A2c.316C>G (p.Pro106Ala)
c.94C>G (p.Pro32Ala)
c.61C>G (p.Pro21Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533732G=CA1242199363SRD5A2c.316C= (p.Pro106=)
c.94C= (p.Pro32=)
c.61C= (p.Pro21=)
2g.31533732G>TCA346598671SRD5A2c.316C>A (p.Pro106Thr)
c.94C>A (p.Pro32Thr)
c.61C>A (p.Pro21Thr)
gnomAD v4
2g.31533733C>ACA346598672SRD5A2c.315G>T (p.Arg105Ser)
c.93G>T (p.Arg31Ser)
c.60G>T (p.Arg20Ser)
2g.31533733C>GCA346598673SRD5A2c.315G>C (p.Arg105Ser)
c.93G>C (p.Arg31Ser)
c.60G>C (p.Arg20Ser)
2g.31533733C>TCA425568474SRD5A2c.315G>A (p.Arg105=)
c.93G>A (p.Arg31=)
c.60G>A (p.Arg20=)
gnomAD v4
2g.31533734C>ACA346598675SRD5A2c.314G>T (p.Arg105Met)
c.92G>T (p.Arg31Met)
c.59G>T (p.Arg20Met)
gnomAD v4
2g.31533734C=CA1242199364SRD5A2c.314G= (p.Arg105=)
c.92G= (p.Arg31=)
c.59G= (p.Arg20=)
2g.31533734C>GCA346598674SRD5A2c.314G>C (p.Arg105Thr)
c.92G>C (p.Arg31Thr)
c.59G>C (p.Arg20Thr)
COSMIC
2g.31533734C>TCA45136785SRD5A2c.314G>A (p.Arg105Lys)
c.92G>A (p.Arg31Lys)
c.59G>A (p.Arg20Lys)
dbSNP gnomAD v3 gnomAD v4
2g.31533735T>ACA346598676SRD5A2c.313A>T (p.Arg105Trp)
c.91A>T (p.Arg31Trp)
c.58A>T (p.Arg20Trp)
2g.31533735T>CCA346598677SRD5A2c.313A>G (p.Arg105Gly)
c.91A>G (p.Arg31Gly)
c.58A>G (p.Arg20Gly)
2g.31533735T>GCA425568477SRD5A2c.313A>C (p.Arg105=)
c.91A>C (p.Arg31=)
c.58A>C (p.Arg20=)
2g.31533736C>ACA425568479SRD5A2c.312G>T (p.Gly104=)
c.90G>T (p.Gly30=)
c.57G>T (p.Gly19=)
gnomAD v4
2g.31533736C=CA1242199365SRD5A2c.312G= (p.Gly104=)
c.90G= (p.Gly30=)
c.57G= (p.Gly19=)
2g.31533736C>GCA425568481SRD5A2c.312G>C (p.Gly104=)
c.90G>C (p.Gly30=)
c.57G>C (p.Gly19=)
2g.31533736C>TCA425568480SRD5A2c.312G>A (p.Gly104=)
c.90G>A (p.Gly30=)
c.57G>A (p.Gly19=)
ClinVar dbSNP gnomAD v2
2g.31533738delCA2658499286SRD5A2c.312del (p.Arg105GlyfsTer26)
c.90del (p.Arg31GlyfsTer26)
c.57del (p.Arg20GlyfsTer26)
ClinVar gnomAD v4
2g.31533737C>ACA346598678SRD5A2c.311G>T (p.Gly104Val)
c.89G>T (p.Gly30Val)
c.56G>T (p.Gly19Val)
gnomAD v4
2g.31533737C=CA1242199366SRD5A2c.311G= (p.Gly104=)
c.89G= (p.Gly30=)
c.56G= (p.Gly19=)
2g.31533737C>GCA346598679SRD5A2c.311G>C (p.Gly104Ala)
c.89G>C (p.Gly30Ala)
c.56G>C (p.Gly19Ala)
2g.31533737C>TCA1599966SRD5A2c.311G>A (p.Gly104Glu)
c.89G>A (p.Gly30Glu)
c.56G>A (p.Gly19Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533738C>ACA346598680SRD5A2c.310G>T (p.Gly104Trp)
c.88G>T (p.Gly30Trp)
c.55G>T (p.Gly19Trp)
dbSNP gnomAD v4
2g.31533738C=CA1242199367SRD5A2c.310G= (p.Gly104=)
c.88G= (p.Gly30=)
c.55G= (p.Gly19=)
2g.31533738C>GCA346598682SRD5A2c.310G>C (p.Gly104Arg)
c.88G>C (p.Gly30Arg)
c.55G>C (p.Gly19Arg)
dbSNP gnomAD v4
2g.31533738C>TCA346598681SRD5A2c.310G>A (p.Gly104Arg)
c.88G>A (p.Gly30Arg)
c.55G>A (p.Gly19Arg)
2g.31533739T>ACA425568486SRD5A2c.309A>T (p.Arg103=)
c.87A>T (p.Arg29=)
c.54A>T (p.Arg18=)
2g.31533739T>CCA425568489SRD5A2c.309A>G (p.Arg103=)
c.87A>G (p.Arg29=)
c.54A>G (p.Arg18=)
2g.31533739T>GCA425568487SRD5A2c.309A>C (p.Arg103=)
c.87A>C (p.Arg29=)
c.54A>C (p.Arg18=)
2g.31533740C>ACA346598683SRD5A2c.308G>T (p.Arg103Leu)
c.86G>T (p.Arg29Leu)
c.53G>T (p.Arg18Leu)
gnomAD v4
2g.31533740C=CA1242199368SRD5A2c.308G= (p.Arg103=)
c.86G= (p.Arg29=)
c.53G= (p.Arg18=)
2g.31533740C>GCA346598684SRD5A2c.308G>C (p.Arg103Pro)
c.86G>C (p.Arg29Pro)
c.53G>C (p.Arg18Pro)
2g.31533740C>TCA1599967SRD5A2c.308G>A (p.Arg103Gln)
c.86G>A (p.Arg29Gln)
c.53G>A (p.Arg18Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.31533741G>ACA1599969SRD5A2c.307C>T (p.Arg103Ter)
c.85C>T (p.Arg29Ter)
c.52C>T (p.Arg18Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533741G>CCA346598685SRD5A2c.307C>G (p.Arg103Gly)
c.85C>G (p.Arg29Gly)
c.52C>G (p.Arg18Gly)
2g.31533741G=CA1242199369SRD5A2c.307C= (p.Arg103=)
c.85C= (p.Arg29=)
c.52C= (p.Arg18=)
2g.31533741G>TCA1599968SRD5A2c.307C>A (p.Arg103=)
c.85C>A (p.Arg29=)
c.52C>A (p.Arg18=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533742A=CA1242199370SRD5A2c.306T= (p.Asn102=)
c.84T= (p.Asn28=)
c.51T= (p.Asn17=)
2g.31533742A>CCA346598686SRD5A2c.306T>G (p.Asn102Lys)
c.84T>G (p.Asn28Lys)
c.51T>G (p.Asn17Lys)
2g.31533742A>GCA425568493SRD5A2c.306T>C (p.Asn102=)
c.84T>C (p.Asn28=)
c.51T>C (p.Asn17=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533742A>TCA346598687SRD5A2c.306T>A (p.Asn102Lys)
c.84T>A (p.Asn28Lys)
c.51T>A (p.Asn17Lys)
dbSNP
2g.31533743T>ACA346598688SRD5A2c.305A>T (p.Asn102Ile)
c.83A>T (p.Asn28Ile)
c.50A>T (p.Asn17Ile)
2g.31533743T>CCA346598689SRD5A2c.305A>G (p.Asn102Ser)
c.83A>G (p.Asn28Ser)
c.50A>G (p.Asn17Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31533743T>GCA346598690SRD5A2c.305A>C (p.Asn102Thr)
c.83A>C (p.Asn28Thr)
c.50A>C (p.Asn17Thr)
2g.31533743T=CA1242199371SRD5A2c.305A= (p.Asn102=)
c.83A= (p.Asn28=)
c.50A= (p.Asn17=)
2g.31533744T>ACA346598692SRD5A2c.304A>T (p.Asn102Tyr)
c.82A>T (p.Asn28Tyr)
c.49A>T (p.Asn17Tyr)
2g.31533744T>CCA346598693SRD5A2c.304A>G (p.Asn102Asp)
c.82A>G (p.Asn28Asp)
c.49A>G (p.Asn17Asp)
dbSNP gnomAD v2 gnomAD v4
2g.31533744T>GCA346598691SRD5A2c.304A>C (p.Asn102His)
c.82A>C (p.Asn28His)
c.49A>C (p.Asn17His)
2g.31533744T=CA1242199372SRD5A2c.304A= (p.Asn102=)
c.82A= (p.Asn28=)
c.49A= (p.Asn17=)
2g.31533745G>ACA425568499SRD5A2c.303C>T (p.Leu101=)
c.81C>T (p.Leu27=)
c.48C>T (p.Leu16=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533745G>CCA425568501SRD5A2c.303C>G (p.Leu101=)
c.81C>G (p.Leu27=)
c.48C>G (p.Leu16=)
2g.31533745G=CA1242199373SRD5A2c.303C= (p.Leu101=)
c.81C= (p.Leu27=)
c.48C= (p.Leu16=)
2g.31533745G>TCA425568503SRD5A2c.303C>A (p.Leu101=)
c.81C>A (p.Leu27=)
c.48C>A (p.Leu16=)
gnomAD v4
2g.31533746A>CCA346598696SRD5A2c.302T>G (p.Leu101Arg)
c.80T>G (p.Leu27Arg)
c.47T>G (p.Leu16Arg)
2g.31533746A>GCA346598694SRD5A2c.302T>C (p.Leu101Pro)
c.80T>C (p.Leu27Pro)
c.47T>C (p.Leu16Pro)
gnomAD v4
2g.31533746A>TCA346598695SRD5A2c.302T>A (p.Leu101His)
c.80T>A (p.Leu27His)
c.47T>A (p.Leu16His)
2g.31533747G>ACA1599970SRD5A2c.301C>T (p.Leu101Phe)
c.79C>T (p.Leu27Phe)
c.46C>T (p.Leu16Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533747G>CCA346598697SRD5A2c.301C>G (p.Leu101Val)
c.79C>G (p.Leu27Val)
c.46C>G (p.Leu16Val)
gnomAD v4
2g.31533747G=CA1242199374SRD5A2c.301C= (p.Leu101=)
c.79C= (p.Leu27=)
c.46C= (p.Leu16=)
2g.31533747G>TCA346598698SRD5A2c.301C>A (p.Leu101Ile)
c.79C>A (p.Leu27Ile)
c.46C>A (p.Leu16Ile)
gnomAD v4
2g.31533748C>ACA425568509SRD5A2c.300G>T (p.Leu100=)
c.78G>T (p.Leu26=)
c.45G>T (p.Leu15=)
gnomAD v4
2g.31533748C=CA1242199375SRD5A2c.300G= (p.Leu100=)
c.78G= (p.Leu26=)
c.45G= (p.Leu15=)
2g.31533748C>GCA425568511SRD5A2c.300G>C (p.Leu100=)
c.78G>C (p.Leu26=)
c.45G>C (p.Leu15=)
2g.31533748C>TCA1599971SRD5A2c.300G>A (p.Leu100=)
c.78G>A (p.Leu26=)
c.45G>A (p.Leu15=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533749A>CCA346598701SRD5A2c.299T>G (p.Leu100Arg)
c.77T>G (p.Leu26Arg)
c.44T>G (p.Leu15Arg)
2g.31533749A>GCA346598699SRD5A2c.299T>C (p.Leu100Pro)
c.77T>C (p.Leu26Pro)
c.44T>C (p.Leu15Pro)
gnomAD v4
2g.31533749A>TCA346598700SRD5A2c.299T>A (p.Leu100Gln)
c.77T>A (p.Leu26Gln)
c.44T>A (p.Leu15Gln)
gnomAD v4
2g.31533750G>ACA425568514SRD5A2c.298C>T (p.Leu100=)
c.76C>T (p.Leu26=)
c.43C>T (p.Leu15=)
gnomAD v4
2g.31533750G>CCA346598702SRD5A2c.298C>G (p.Leu100Val)
c.76C>G (p.Leu26Val)
c.43C>G (p.Leu15Val)
2g.31533750G>TCA346598703SRD5A2c.298C>A (p.Leu100Met)
c.76C>A (p.Leu26Met)
c.43C>A (p.Leu15Met)
2g.31533751T>ACA425568517SRD5A2c.297A>T (p.Ser99=)
c.75A>T (p.Ser25=)
c.42A>T (p.Ser14=)
2g.31533751T>CCA425568518SRD5A2c.297A>G (p.Ser99=)
c.75A>G (p.Ser25=)
c.42A>G (p.Ser14=)
2g.31533751T>GCA425568519SRD5A2c.297A>C (p.Ser99=)
c.75A>C (p.Ser25=)
c.42A>C (p.Ser14=)
2g.31533752G>ACA346598704SRD5A2c.296C>T (p.Ser99Leu)
c.74C>T (p.Ser25Leu)
c.41C>T (p.Ser14Leu)
gnomAD v4
2g.31533752G>CCA346598705SRD5A2c.296C>G (p.Ser99Ter)
c.74C>G (p.Ser25Ter)
c.41C>G (p.Ser14Ter)
2g.31533752G>TCA346598706SRD5A2c.296C>A (p.Ser99Ter)
c.74C>A (p.Ser25Ter)
c.41C>A (p.Ser14Ter)
gnomAD v4
2g.31533753A>CCA346598707SRD5A2c.295T>G (p.Ser99Ala)
c.73T>G (p.Ser25Ala)
c.40T>G (p.Ser14Ala)
2g.31533753A>GCA346598709SRD5A2c.295T>C (p.Ser99Pro)
c.73T>C (p.Ser25Pro)
c.40T>C (p.Ser14Pro)
2g.31533753A>TCA346598708SRD5A2c.295T>A (p.Ser99Thr)
c.73T>A (p.Ser25Thr)
c.40T>A (p.Ser14Thr)
2g.31533754G>ACA425568525SRD5A2c.294C>T (p.Tyr98=)
c.72C>T (p.Tyr24=)
c.39C>T (p.Tyr13=)
gnomAD v4
2g.31533754G>CCA346598710SRD5A2c.294C>G (p.Tyr98Ter)
c.72C>G (p.Tyr24Ter)
c.39C>G (p.Tyr13Ter)
2g.31533754G>TCA346598711SRD5A2c.294C>A (p.Tyr98Ter)
c.72C>A (p.Tyr24Ter)
c.39C>A (p.Tyr13Ter)
2g.31533755delCA2658499287SRD5A2c.293del (p.Tyr98SerfsTer?)
c.71del (p.Tyr24SerfsTer?)
c.38del (p.Tyr13SerfsTer?)
gnomAD v4
2g.31533755T>ACA346598712SRD5A2c.293A>T (p.Tyr98Phe)
c.71A>T (p.Tyr24Phe)
c.38A>T (p.Tyr13Phe)
2g.31533755T>CCA346598713SRD5A2c.293A>G (p.Tyr98Cys)
c.71A>G (p.Tyr24Cys)
c.38A>G (p.Tyr13Cys)
gnomAD v4
2g.31533755T>GCA346598714SRD5A2c.293A>C (p.Tyr98Ser)
c.71A>C (p.Tyr24Ser)
c.38A>C (p.Tyr13Ser)
2g.31533756A>CCA346598715SRD5A2c.292T>G (p.Tyr98Asp)
c.70T>G (p.Tyr24Asp)
c.37T>G (p.Tyr13Asp)
2g.31533756A>GCA346598716SRD5A2c.292T>C (p.Tyr98His)
c.70T>C (p.Tyr24His)
c.37T>C (p.Tyr13His)
gnomAD v4
2g.31533756A>TCA346598717SRD5A2c.292T>A (p.Tyr98Asn)
c.70T>A (p.Tyr24Asn)
c.37T>A (p.Tyr13Asn)
2g.31533759_31533760delCA2658499288SRD5A2c.291_292del (p.Tyr98LeufsTer?)
c.69_70del (p.Tyr24LeufsTer?)
c.36_37del (p.Tyr13LeufsTer?)
gnomAD v4
2g.31533757C>ACA425568532SRD5A2c.291G>T (p.Val97=)
c.69G>T (p.Val23=)
c.36G>T (p.Val12=)
gnomAD v4
2g.31533757C=CA1242199376SRD5A2c.291G= (p.Val97=)
c.69G= (p.Val23=)
c.36G= (p.Val12=)
2g.31533757C>GCA425568533SRD5A2c.291G>C (p.Val97=)
c.69G>C (p.Val23=)
c.36G>C (p.Val12=)
2g.31533757C>TCA425568534SRD5A2c.291G>A (p.Val97=)
c.69G>A (p.Val23=)
c.36G>A (p.Val12=)
dbSNP gnomAD v2 gnomAD v4
2g.31533758A>CCA346598718SRD5A2c.290T>G (p.Val97Gly)
c.68T>G (p.Val23Gly)
c.35T>G (p.Val12Gly)
2g.31533758A>GCA346598719SRD5A2c.290T>C (p.Val97Ala)
c.68T>C (p.Val23Ala)
c.35T>C (p.Val12Ala)
2g.31533758A>TCA346598720SRD5A2c.290T>A (p.Val97Glu)
c.68T>A (p.Val23Glu)
c.35T>A (p.Val12Glu)
2g.31533759C>ACA346598722SRD5A2c.289G>T (p.Val97Leu)
c.67G>T (p.Val23Leu)
c.34G>T (p.Val12Leu)
gnomAD v4
2g.31533759C=CA1242199377SRD5A2c.289G= (p.Val97=)
c.67G= (p.Val23=)
c.34G= (p.Val12=)
2g.31533759C>GCA1599972SRD5A2c.289G>C (p.Val97Leu)
c.67G>C (p.Val23Leu)
c.34G>C (p.Val12Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533759C>TCA346598721SRD5A2c.289G>A (p.Val97Met)
c.67G>A (p.Val23Met)
c.34G>A (p.Val12Met)
gnomAD v4
2g.31533760A=CA1242199378SRD5A2c.288T= (p.Phe96=)
c.66T= (p.Phe22=)
c.33T= (p.Phe11=)
2g.31533760A>CCA1599973SRD5A2c.288T>G (p.Phe96Leu)
c.66T>G (p.Phe22Leu)
c.33T>G (p.Phe11Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31533760A>GCA425568539SRD5A2c.288T>C (p.Phe96=)
c.66T>C (p.Phe22=)
c.33T>C (p.Phe11=)
gnomAD v4 COSMIC
2g.31533760A>TCA346598723SRD5A2c.288T>A (p.Phe96Leu)
c.66T>A (p.Phe22Leu)
c.33T>A (p.Phe11Leu)
2g.31533761A>CCA346598724SRD5A2c.287T>G (p.Phe96Cys)
c.65T>G (p.Phe22Cys)
c.32T>G (p.Phe11Cys)
2g.31533761A>GCA346598725SRD5A2c.287T>C (p.Phe96Ser)
c.65T>C (p.Phe22Ser)
c.32T>C (p.Phe11Ser)
gnomAD v4
2g.31533761A>TCA346598726SRD5A2c.287T>A (p.Phe96Tyr)
c.65T>A (p.Phe22Tyr)
c.32T>A (p.Phe11Tyr)
2g.31533762A>CCA346598727SRD5A2c.286T>G (p.Phe96Val)
c.64T>G (p.Phe22Val)
c.31T>G (p.Phe11Val)
2g.31533762A>GCA346598728SRD5A2c.286T>C (p.Phe96Leu)
c.64T>C (p.Phe22Leu)
c.31T>C (p.Phe11Leu)
2g.31533762A>TCA346598729SRD5A2c.286T>A (p.Phe96Ile)
c.64T>A (p.Phe22Ile)
c.31T>A (p.Phe11Ile)
COSMIC
2g.31533763T>ACA425568546SRD5A2c.285A>T (p.Thr95=)
c.63A>T (p.Thr21=)
c.30A>T (p.Thr10=)
2g.31533763T>CCA425568547SRD5A2c.285A>G (p.Thr95=)
c.63A>G (p.Thr21=)
c.30A>G (p.Thr10=)
2g.31533763T>GCA425568550SRD5A2c.285A>C (p.Thr95=)
c.63A>C (p.Thr21=)
c.30A>C (p.Thr10=)
2g.31533764G>ACA45136786SRD5A2c.284C>T (p.Thr95Ile)
c.62C>T (p.Thr21Ile)
c.29C>T (p.Thr10Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533764G>CCA346598730SRD5A2c.284C>G (p.Thr95Arg)
c.62C>G (p.Thr21Arg)
c.29C>G (p.Thr10Arg)
2g.31533764G=CA1242199379SRD5A2c.284C= (p.Thr95=)
c.62C= (p.Thr21=)
c.29C= (p.Thr10=)
2g.31533764G>TCA346598731SRD5A2c.284C>A (p.Thr95Lys)
c.62C>A (p.Thr21Lys)
c.29C>A (p.Thr10Lys)
2g.31533765T>ACA346598732SRD5A2c.283A>T (p.Thr95Ser)
c.61A>T (p.Thr21Ser)
c.28A>T (p.Thr10Ser)
2g.31533765T>CCA346598733SRD5A2c.283A>G (p.Thr95Ala)
c.61A>G (p.Thr21Ala)
c.28A>G (p.Thr10Ala)
2g.31533765T>GCA346598734SRD5A2c.283A>C (p.Thr95Pro)
c.61A>C (p.Thr21Pro)
c.28A>C (p.Thr10Pro)
2g.31533766C>ACA346598735SRD5A2c.282G>T (p.Arg94Ser)
c.60G>T (p.Lys20Asn)
c.27G>T (p.Arg9Ser)
gnomAD v4
2g.31533766C>GCA346598736SRD5A2c.282G>C (p.Arg94Ser)
c.60G>C (p.Lys20Asn)
c.27G>C (p.Arg9Ser)
gnomAD v4
2g.31533766C>TCA425568555SRD5A2c.282G>A (p.Arg94=)
c.60G>A (p.Lys20=)
c.27G>A (p.Arg9=)
2g.31533767C>ACA346598737SRD5A2c.282-1G>T (n.282-1G>T)
c.60-1G>T (n.60-1G>T)
c.27-1G>T (n.27-1G>T)
gnomAD v4
2g.31533767C>GCA346598738SRD5A2c.282-1G>C (n.282-1G>C)
c.60-1G>C (n.60-1G>C)
c.27-1G>C (n.27-1G>C)
2g.31533767C>TCA346598739SRD5A2c.282-1G>A (n.282-1G>A)
c.60-1G>A (n.60-1G>A)
c.27-1G>A (n.27-1G>A)
gnomAD v4 COSMIC
2g.31533768T>ACA346598740SRD5A2c.282-2A>T (n.282-2A>T)
c.60-2A>T (n.60-2A>T)
c.27-2A>T (n.27-2A>T)
dbSNP gnomAD v2
2g.31533768T>CCA346598741SRD5A2c.282-2A>G (n.282-2A>G)
c.60-2A>G (n.60-2A>G)
c.27-2A>G (n.27-2A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31533768T>GCA346598742SRD5A2c.282-2A>C (n.282-2A>C)
c.60-2A>C (n.60-2A>C)
c.27-2A>C (n.27-2A>C)
gnomAD v4
2g.31533768T=CA1242199380SRD5A2c.282-2A= (n.282-2A=)
c.60-2A= (n.60-2A=)
c.27-2A= (n.27-2A=)
2g.31533769G>ACA2658499290SRD5A2c.282-3C>T (n.282-3C>T)
c.60-3C>T (n.60-3C>T)
c.27-3C>T (n.27-3C>T)
gnomAD v4
2g.31533769G>CCA45136787SRD5A2c.282-3C>G (n.282-3C>G)
c.60-3C>G (n.60-3C>G)
c.27-3C>G (n.27-3C>G)
dbSNP gnomAD v4
2g.31533769G=CA1242199381SRD5A2c.282-3C= (n.282-3C=)
c.60-3C= (n.60-3C=)
c.27-3C= (n.27-3C=)
2g.31533769G>TCA767761948SRD5A2c.282-3C>A (n.282-3C>A)
c.60-3C>A (n.60-3C>A)
c.27-3C>A (n.27-3C>A)
dbSNP gnomAD v3 gnomAD v4
2g.31533770G>ACA2658499291SRD5A2c.282-4C>T (n.282-4C>T)
c.60-4C>T (n.60-4C>T)
c.27-4C>T (n.27-4C>T)
gnomAD v4
2g.31533770G>TCA2658499292SRD5A2c.282-4C>A (n.282-4C>A)
c.60-4C>A (n.60-4C>A)
c.27-4C>A (n.27-4C>A)
gnomAD v4
2g.31533771G>ACA531769399SRD5A2c.282-5C>T (n.282-5C>T)
c.60-5C>T (n.60-5C>T)
c.27-5C>T (n.27-5C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533771G=CA1242199382SRD5A2c.282-5C= (n.282-5C=)
c.60-5C= (n.60-5C=)
c.27-5C= (n.27-5C=)
2g.31533771G>TCA2658499293SRD5A2c.282-5C>A (n.282-5C>A)
c.60-5C>A (n.60-5C>A)
c.27-5C>A (n.27-5C>A)
gnomAD v4
2g.31533774A=CA1242199383SRD5A2c.282-8T= (n.282-8T=)
c.60-8T= (n.60-8T=)
c.27-8T= (n.27-8T=)
2g.31533774A>CCA531769400SRD5A2c.282-8T>G (n.282-8T>G)
c.60-8T>G (n.60-8T>G)
c.27-8T>G (n.27-8T>G)
dbSNP gnomAD v2
2g.31533775C>ACA2658499294SRD5A2c.282-9G>T (n.282-9G>T)
c.60-9G>T (n.60-9G>T)
c.27-9G>T (n.27-9G>T)
gnomAD v4
2g.31533775C=CA1242199384SRD5A2c.282-9G= (n.282-9G=)
c.60-9G= (n.60-9G=)
c.27-9G= (n.27-9G=)
2g.31533775C>TCA1599974SRD5A2c.282-9G>A (n.282-9G>A)
c.60-9G>A (n.60-9G>A)
c.27-9G>A (n.27-9G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533776A>CCA2658499295SRD5A2c.282-10T>G (n.282-10T>G)
c.60-10T>G (n.60-10T>G)
c.27-10T>G (n.27-10T>G)
gnomAD v4
2g.31533777C>ACA531769401SRD5A2c.282-11G>T (n.282-11G>T)
c.60-11G>T (n.60-11G>T)
c.27-11G>T (n.27-11G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533777C=CA1242199385SRD5A2c.282-11G= (n.282-11G=)
c.60-11G= (n.60-11G=)
c.27-11G= (n.27-11G=)
2g.31533777C>TCA531769402SRD5A2c.282-11G>A (n.282-11G>A)
c.60-11G>A (n.60-11G>A)
c.27-11G>A (n.27-11G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.31533778A>GCA2658499297SRD5A2c.282-12T>C (n.282-12T>C)
c.60-12T>C (n.60-12T>C)
c.27-12T>C (n.27-12T>C)
gnomAD v4
2g.31533778A>TCA2658499296SRD5A2c.282-12T>A (n.282-12T>A)
c.60-12T>A (n.60-12T>A)
c.27-12T>A (n.27-12T>A)
gnomAD v4
2g.31533778_31533779delinsAGCA1242199386SRD5A2c.282-13_282-12delinsCT (n.282-13_282-12delinsCT)
c.60-13_60-12delinsCT (n.60-13_60-12delinsCT)
c.27-13_27-12delinsCT (n.27-13_27-12delinsCT)
2g.31533779G>ACA2697547976SRD5A2c.282-13C>T (n.282-13C>T)
c.60-13C>T (n.60-13C>T)
c.27-13C>T (n.27-13C>T)
ClinVar
2g.31533779G>CCA531769404SRD5A2c.282-13C>G (n.282-13C>G)
c.60-13C>G (n.60-13C>G)
c.27-13C>G (n.27-13C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533779G=CA1242199387SRD5A2c.282-13C= (n.282-13C=)
c.60-13C= (n.60-13C=)
c.27-13C= (n.27-13C=)
2g.31533779G>TCA2576929422SRD5A2c.282-13C>A (n.282-13C>A)
c.60-13C>A (n.60-13C>A)
c.27-13C>A (n.27-13C>A)
gnomAD v4
2g.31533781delCA531769403SRD5A2c.282-13del (n.282-13del)
c.60-13del (n.60-13del)
c.27-13del (n.27-13del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533780G>ACA531769405SRD5A2c.282-14C>T (n.282-14C>T)
c.60-14C>T (n.60-14C>T)
c.27-14C>T (n.27-14C>T)
dbSNP gnomAD v2 gnomAD v4
2g.31533780G=CA1242199388SRD5A2c.282-14C= (n.282-14C=)
c.60-14C= (n.60-14C=)
c.27-14C= (n.27-14C=)
2g.31533780G>TCA2658499298SRD5A2c.282-14C>A (n.282-14C>A)
c.60-14C>A (n.60-14C>A)
c.27-14C>A (n.27-14C>A)
gnomAD v4
2g.31533781G>ACA2658499299SRD5A2c.282-15C>T (n.282-15C>T)
c.60-15C>T (n.60-15C>T)
c.27-15C>T (n.27-15C>T)
gnomAD v4
2g.31533783G>TCA2658499300SRD5A2c.282-17C>A (n.282-17C>A)
c.60-17C>A (n.60-17C>A)
c.27-17C>A (n.27-17C>A)
gnomAD v4
2g.31533784G>TCA2658499301SRD5A2c.282-18C>A (n.282-18C>A)
c.60-18C>A (n.60-18C>A)
c.27-18C>A (n.27-18C>A)
ClinVar gnomAD v4
2g.31533786A>GCA2658499302SRD5A2c.282-20T>C (n.282-20T>C)
c.60-20T>C (n.60-20T>C)
c.27-20T>C (n.27-20T>C)
gnomAD v4
2g.31533787A>GCA2576929423SRD5A2c.282-21T>C (n.282-21T>C)
c.60-21T>C (n.60-21T>C)
c.27-21T>C (n.27-21T>C)
2g.31533788G>ACA2658499303SRD5A2c.282-22C>T (n.282-22C>T)
c.60-22C>T (n.60-22C>T)
c.27-22C>T (n.27-22C>T)
gnomAD v4
2g.31533788G>TCA2658499304SRD5A2c.282-22C>A (n.282-22C>A)
c.60-22C>A (n.60-22C>A)
c.27-22C>A (n.27-22C>A)
gnomAD v4
2g.31533789G>ACA1242199390SRD5A2c.282-23C>T (n.282-23C>T)
c.60-23C>T (n.60-23C>T)
c.27-23C>T (n.27-23C>T)
dbSNP gnomAD v4
2g.31533789G>CCA767761959SRD5A2c.282-23C>G (n.282-23C>G)
c.60-23C>G (n.60-23C>G)
c.27-23C>G (n.27-23C>G)
dbSNP
2g.31533789G=CA1242199389SRD5A2c.282-23C= (n.282-23C=)
c.60-23C= (n.60-23C=)
c.27-23C= (n.27-23C=)
2g.31533792A>GCA2576929424SRD5A2c.282-26T>C (n.282-26T>C)
c.60-26T>C (n.60-26T>C)
c.27-26T>C (n.27-26T>C)
gnomAD v4
2g.31533792A>TCA2658499305SRD5A2c.282-26T>A (n.282-26T>A)
c.60-26T>A (n.60-26T>A)
c.27-26T>A (n.27-26T>A)
gnomAD v4
2g.31533793G>CCA1242199391SRD5A2c.282-27C>G (n.282-27C>G)
c.60-27C>G (n.60-27C>G)
c.27-27C>G (n.27-27C>G)
dbSNP gnomAD v4
2g.31533793G=CA1242199392SRD5A2c.282-27C= (n.282-27C=)
c.60-27C= (n.60-27C=)
c.27-27C= (n.27-27C=)
2g.31533793G>TCA2658499306SRD5A2c.282-27C>A (n.282-27C>A)
c.60-27C>A (n.60-27C>A)
c.27-27C>A (n.27-27C>A)
gnomAD v4
2g.31533794G>TCA2658499307SRD5A2c.282-28C>A (n.282-28C>A)
c.60-28C>A (n.60-28C>A)
c.27-28C>A (n.27-28C>A)
gnomAD v4
2g.31533795A>GCA2658499308SRD5A2c.282-29T>C (n.282-29T>C)
c.60-29T>C (n.60-29T>C)
c.27-29T>C (n.27-29T>C)
gnomAD v4
2g.31533795A>TCA2658499309SRD5A2c.282-29T>A (n.282-29T>A)
c.60-29T>A (n.60-29T>A)
c.27-29T>A (n.27-29T>A)
gnomAD v4
2g.31533796T>ACA2576929425SRD5A2c.282-30A>T (n.282-30A>T)
c.60-30A>T (n.60-30A>T)
c.27-30A>T (n.27-30A>T)
2g.31533798C>ACA2658499310SRD5A2c.282-32G>T (n.282-32G>T)
c.60-32G>T (n.60-32G>T)
c.27-32G>T (n.27-32G>T)
gnomAD v4
2g.31533798C>TCA2658499311SRD5A2c.282-32G>A (n.282-32G>A)
c.60-32G>A (n.60-32G>A)
c.27-32G>A (n.27-32G>A)
dbSNP gnomAD v4
2g.31533799A>GCA2658499312SRD5A2c.282-33T>C (n.282-33T>C)
c.60-33T>C (n.60-33T>C)
c.27-33T>C (n.27-33T>C)
gnomAD v4
2g.31533799A>TCA2576929426SRD5A2c.282-33T>A (n.282-33T>A)
c.60-33T>A (n.60-33T>A)
c.27-33T>A (n.27-33T>A)
gnomAD v4
2g.31533800C>ACA2658499313SRD5A2c.282-34G>T (n.282-34G>T)
c.60-34G>T (n.60-34G>T)
c.27-34G>T (n.27-34G>T)
gnomAD v4
2g.31533800C=CA1242199393SRD5A2c.282-34G= (n.282-34G=)
c.60-34G= (n.60-34G=)
c.27-34G= (n.27-34G=)
2g.31533800C>TCA531769406SRD5A2c.282-34G>A (n.282-34G>A)
c.60-34G>A (n.60-34G>A)
c.27-34G>A (n.27-34G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31533801T>CCA1599975SRD5A2c.282-35A>G (n.282-35A>G)
c.60-35A>G (n.60-35A>G)
c.27-35A>G (n.27-35A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.31533801T>GCA2658499314SRD5A2c.282-35A>C (n.282-35A>C)
c.60-35A>C (n.60-35A>C)
c.27-35A>C (n.27-35A>C)
gnomAD v4
2g.31533801T=CA1242199394SRD5A2c.282-35A= (n.282-35A=)
c.60-35A= (n.60-35A=)
c.27-35A= (n.27-35A=)
2g.31533802G>ACA2658499315SRD5A2c.282-36C>T (n.282-36C>T)
c.60-36C>T (n.60-36C>T)
c.27-36C>T (n.27-36C>T)
gnomAD v4
2g.31533802G>TCA2658499316SRD5A2c.282-36C>A (n.282-36C>A)
c.60-36C>A (n.60-36C>A)
c.27-36C>A (n.27-36C>A)
gnomAD v4
2g.31533803T>CCA45136788SRD5A2c.282-37A>G (n.282-37A>G)
c.60-37A>G (n.60-37A>G)
c.27-37A>G (n.27-37A>G)
dbSNP gnomAD v2 gnomAD v4
2g.31533803T=CA1242199395SRD5A2c.282-37A= (n.282-37A=)
c.60-37A= (n.60-37A=)
c.27-37A= (n.27-37A=)
2g.31533804delCA2658499317SRD5A2c.282-37del (n.282-37del)
c.60-37del (n.60-37del)
c.27-37del (n.27-37del)
gnomAD v4

Number of alleles fetched